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Aliases for BOLL Gene

Aliases for BOLL Gene

  • Boule Homolog, RNA Binding Protein 2 3 5
  • Boule-Like RNA Binding Protein 2 3
  • BOULE 3 4
  • Bol (Drosophila Boule Homolog)-Like 2
  • Bol, Boule-Like (Drosophila) 2
  • Protein Boule-Like 3
  • Bol, Boule-Like 3

External Ids for BOLL Gene

Previous GeneCards Identifiers for BOLL Gene

  • GC02M196791
  • GC02M197304
  • GC02M198555
  • GC02M198794
  • GC02M198417
  • GC02M198299
  • GC02M198591
  • GC02M190443

Summaries for BOLL Gene

Entrez Gene Summary for BOLL Gene

  • This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BOLL Gene

BOLL (Boule Homolog, RNA Binding Protein) is a Protein Coding gene. Diseases associated with BOLL include Azoospermia and Male Infertility. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is DAZL.

UniProtKB/Swiss-Prot for BOLL Gene

  • Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation (By similarity).

Gene Wiki entry for BOLL Gene

Additional gene information for BOLL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BOLL Gene

Genomics for BOLL Gene

GeneHancer (GH) Regulatory Elements for BOLL Gene

Promoters and enhancers for BOLL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J197787 Promoter/Enhancer 1 Ensembl ENCODE 650.7 +0.2 189 0.3 CTCF PKNOX1 ZNF143 EZH2 BOLL GC02P197765
GH02J197785 Promoter 0.5 EPDnew 650.7 +1.4 1423 0.1 BOLL GC02P197765
GH02J197786 Enhancer 0.4 ENCODE 650.7 +0.6 610 0.2 CTCF BACH1 ZNF143 BOLL GC02P197765
GH02J197451 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 +333.4 333384 4.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 COQ10B HSPE1 HSPD1 GTF3C3 ENSG00000202434 BOLL ANKRD44 PLCL1 RNU6-1029P
GH02J197575 Enhancer 0.8 Ensembl ENCODE 10.3 +209.0 208990 3.6 USF1 NANOG CEBPB REST SP1 MITF HNF4A FOSL2 MAFK GC02M197569 BOLL PLCL1 GC02P197600 RFTN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BOLL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BOLL gene promoter:
  • LCR-F1
  • Pax-6
  • SRY
  • c-Myc
  • Max
  • NF-kappaB

Genomic Locations for BOLL Gene

Genomic Locations for BOLL Gene
chr2:197,726,879-197,786,762
(GRCh38/hg38)
Size:
59,884 bases
Orientation:
Minus strand
chr2:198,591,603-198,651,486
(GRCh37/hg19)
Size:
59,884 bases
Orientation:
Minus strand

Genomic View for BOLL Gene

Genes around BOLL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BOLL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BOLL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOLL Gene

Proteins for BOLL Gene

  • Protein details for BOLL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9W6-BOLL_HUMAN
    Recommended name:
    Protein boule-like
    Protein Accession:
    Q8N9W6
    Secondary Accessions:
    • B4DZA4
    • Q0JW32
    • Q53T62
    • Q969U3

    Protein attributes for BOLL Gene

    Size:
    283 amino acids
    Molecular mass:
    31301 Da
    Quaternary structure:
    • Interacts with DAZ1 and DAZL.

    Alternative splice isoforms for BOLL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOLL Gene

Post-translational modifications for BOLL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BOLL Gene

Domains & Families for BOLL Gene

Gene Families for BOLL Gene

Suggested Antigen Peptide Sequences for BOLL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N9W6

UniProtKB/Swiss-Prot:

BOLL_HUMAN :
  • Belongs to the RRM DAZ family.
Family:
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with BOLL: view

Function for BOLL Gene

Molecular function for BOLL Gene

UniProtKB/Swiss-Prot Function:
Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation (By similarity).

Phenotypes From GWAS Catalog for BOLL Gene

Gene Ontology (GO) - Molecular Function for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IEA --
GO:0003730 mRNA 3-UTR binding IBA --
GO:0005515 protein binding IPI 16001084
GO:0008494 translation activator activity IDA 16001084
genes like me logo Genes that share ontologies with BOLL: view
genes like me logo Genes that share phenotypes with BOLL: view

Animal Models for BOLL Gene

MGI Knock Outs for BOLL:

Animal Model Products

miRNA for BOLL Gene

miRTarBase miRNAs that target BOLL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BOLL Gene

Localization for BOLL Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOLL Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BOLL gene
Compartment Confidence
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11390979
genes like me logo Genes that share ontologies with BOLL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BOLL Gene

Pathways & Interactions for BOLL Gene

No Data Available

Gene Ontology (GO) - Biological Process for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0007275 multicellular organism development IEA --
GO:0007281 germ cell development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with BOLL: view

No data available for Pathways by source and SIGNOR curated interactions for BOLL Gene

Drugs & Compounds for BOLL Gene

No Compound Related Data Available

Transcripts for BOLL Gene

Unigene Clusters for BOLL Gene

Bol, boule-like (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BOLL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - - -
SP3: - -

Relevant External Links for BOLL Gene

GeneLoc Exon Structure for
BOLL
ECgene alternative splicing isoforms for
BOLL

Expression for BOLL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BOLL Gene

mRNA differential expression in normal tissues according to GTEx for BOLL Gene

This gene is overexpressed in Testis (x47.6) and Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for BOLL Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BOLL Gene



Protein tissue co-expression partners for BOLL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BOLL Gene:

BOLL

SOURCE GeneReport for Unigene cluster for BOLL Gene:

Hs.169797

mRNA Expression by UniProt/SwissProt for BOLL Gene:

Q8N9W6-BOLL_HUMAN
Tissue specificity: Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists through meiosis.

Evidence on tissue expression from TISSUES for BOLL Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with BOLL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BOLL Gene

Orthologs for BOLL Gene

This gene was present in the common ancestor of animals.

Orthologs for BOLL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BOLL 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BOLL 34 33
  • 94.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BOLL 34 33
  • 93.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BOLL 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Boll 16 34 33
  • 91.09 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911373 33
  • 90.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BOLL 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves BOLL 33
  • 78.25 (n)
lizard
(Anolis carolinensis)
Reptilia BOLL 34
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bol 34 35
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daz-1 34
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToOne
Species where no ortholog for BOLL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for BOLL Gene

ENSEMBL:
Gene Tree for BOLL (if available)
TreeFam:
Gene Tree for BOLL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BOLL: view image

Paralogs for BOLL Gene

Paralogs for BOLL Gene

(22) SIMAP similar genes for BOLL Gene using alignment to 4 proteins:

  • BOLL_HUMAN
  • B4DZA4_HUMAN
  • F2Z2G3_HUMAN
  • F8WD91_HUMAN
genes like me logo Genes that share paralogs with BOLL: view

Variants for BOLL Gene

Sequence variations from dbSNP and Humsavar for BOLL Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000015602 -- 197,762,966(-) G/A intron_variant
rs1000030694 -- 197,741,056(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000122600 -- 197,777,436(-) T/A intron_variant
rs1000161746 -- 197,749,012(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000167671 -- 197,785,405(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BOLL Gene

Variant ID Type Subtype PubMed ID
esv3593910 CNV loss 21293372
esv3593911 CNV gain 21293372
nsv1009134 CNV gain 25217958
nsv1139743 CNV duplication 24896259
nsv460016 CNV gain 19166990
nsv516368 CNV loss 19592680
nsv584157 CNV gain 21841781
nsv834506 CNV gain 17160897

Variation tolerance for BOLL Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BOLL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOLL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BOLL Gene

Disorders for BOLL Gene

MalaCards: The human disease database

(4) MalaCards diseases for BOLL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
azoospermia
  • spermatogenic failure
male infertility
  • infertility male
male reproductive system disease
  • genital diseases, male
reproductive system disease
  • genital system disease
- elite association - COSMIC cancer census association via MalaCards
Search BOLL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BOLL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BOLL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BOLL Gene

Publications for BOLL Gene

  1. Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. (PMID: 17114206) Kostova E … Gromoll J (Molecular human reproduction 2007) 3 4 22 58
  2. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PMID: 11390979) Xu EY … Pera RA (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 58
  3. Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population. (PMID: 19342699) Chen P … Yang Y (Journal of andrology 2010) 3 44 58
  4. Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation. (PMID: 19865085) Kee K … Reijo Pera RA (Nature 2009) 3 22 58
  5. Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. (PMID: 19417033) Lin YM … Cheng YS (The Journal of clinical endocrinology and metabolism 2009) 3 22 58

Products for BOLL Gene

Sources for BOLL Gene

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